Publication
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality
Francesca Magrinelli, Christelle Tesson, Plamena R. Angelova, Jose A. Rodriguez, Annarita Scardamaglia, Benjamin O’Callaghan, Simon A. Lowe, Ainara Salazar-Villacorta, Brian Hon-Yin Chung, Matthew Jaconelli, Barbara Vona, Noemi Esteras, Angela Mammana, Junko Shimazu, Anna Ka-Yee Kwong, Thomas Courtin, Shahryar Alavi, Reza Maroofian, Raja Nirujogi, Mariasavina Severino, Edoardo Monfrini, Clarissa Rocca, Patrick A. Lewis, Stephanie Efthymiou, Rebecca Buchert, Linda Sofan, Pawel Lis, Chloé Pinon, Guido J. Breedveld, Martin Man-Chun Chui, David Murphy, Vanessa Pitz, Mary B. Makarious, Simone Baiardi, Marina Volin, Marlene Cassar, Bassem A. Hassan, Sana Iftikhar, Peter Bauer, Michele Tinazzi, Marina Svetel, Bedia Samanci, Haşmet A. Hanağası, Basar Bilgiç, Francesco Cavallieri, Mario Santangelo, José A. Obeso, Monica M. Kurtis, Guillaume Cogan, Güneş Kiziltan, Tuğçe Gül-Demirkale, Hülya Tireli, Gülbün A. Yüksel, Gül Yalçın-Cakmakli, Bülent Elibol, Nina Barišić, Earny Wei-Sen Ng, Sze-Shing Fan, Tova Hershkovitz, Karin Weiss, Javeria Raza Alvi, Tipu Sultan, Issam Azmi Alkhawaja, Tawfiq Froukh, Hadeel Abdollah E. Alrukban, Muhammad Nadeem Anjum, Anjum Saeed, Huma Arshad Cheema, Christine Fauth, Ulrich A. Schatz, Thomas Zöggeler, Michael Zech, Karen Stals, Vinod Varghese, Sonia Gandhi, Cornelis Blauwendraat, John A. Hardy, Alessio Di Fonzo, Vincenzo Bonifati, Tobias B. Haack, Aida M. Bertoli-Avella, Suzanne Lesage, Ayşe Nazlı Başak, Robert Steinfeld, Piero Parchi, James E. C. Jepson, Dario R. Alessi, Alexis Brice, Hermann Steller, Andrey Y. Abramov, Kailash P. Bhatia, Henry Houlden
Nature Communications, April 2026, Springer Science + Business Media
DOI: 10.1038/s41467-026-71351-w
